Autosomal Recessive Disorder
Fryns Syndrome: An Autosomal Recessive Disorder Associated With Craniofacial Anomalies, Diaphragmatic Hernia, and Distal Digital Hypoplasia
... In addition to diaphragmatic hernia, craniofacial anomalies, and distal digital hypoplasia, which are present in almost all reported cases of Fryns syn-. drome, a number of internal malf[r] ...
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Congenital Nephrotic Syndrome of the Finnish Type: A Greek Case Report
... an autosomal recessive disorder encoding by nephrin gene mutation which is a (transmem- brane protein 1-homolog—NPHS1) structural component of the slit diaphragm responsible for the proper ...
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Endocrine abnormalities in two siblings with Rothmund Thomson Syndrome
... rare autosomal recessive disorder characterized by poikiloderma (skin atrophy, telangiectasia, hyper- and hypopigmentation), congenital skeletal abnormalities, short stature, premature aging, and ...
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A Case Study on Ayurvedic Management of Spinal Muscular Atrophy (SMA)
... serious autosomal recessive disorder after cystic fibrosis, with an estimated incidence of 1 in 6,000 to 1 in 10,000 live births, with a carrier frequency of 1/40-1/60 (2, ...
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Utility of Genetic Testing for Confirmation of Abnormal Newborn Screening in Disorders of Long-Chain Fatty Acids: A Missed Case of Carnitine Palmitoyltransferase 1A (CPT1A) Deficiency
... Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a rare autosomal recessive disorder of long-chain fatty acid oxidation. Patients are at risk for hypoglycemia and liver failure during times of ...
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A man with a worrying potassium deficiency
... an autosomal recessive disorder with an estimated prevalence of w 25 per million people, there- fore, making it one of the commonest inherited renal tubular disorders ...
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Autosomal recessive cerebellar ataxias
... Marinesco-Sjögren syndrome (MSS) is a rare autosomal recessive disorder with approximately 200 known cases worldwide [174]. Disease onset occurs in infancy. Cardi- nal features of MSS are cerebellar ...
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ENZYMES AS DRUGS: A NOVEL THERAPEUTIC APPROACH
... an autosomal recessive disorder caused due to mutation in the gene called cystic fibrosis transmembrane conductance regulator(CFTR) resulting in abnormal sodium and Chloride transport in several ...
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Mutation and Rare Polymorphisms Insight in Exons 7 and 20 of CFTR Gene in Non-Caucasian Cystic Fibrosis Patients
... severe autosomal recessive disorder caused by a wide spectrum of mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator (CFTR) ...
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Familial Reye-Like Syndrome: A Presentation of Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
... Medium-chain acyl-coenzyme A (CoA) dehydro- genase deficiency is a recently described, autosomal recessive disorder of fatty acid oxidation that has a superficial similarity to Reye synd[r] ...
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Phosphate matters when investigating hypercalcemia: a mutation in SLC34A3 causing HHRH
... rare, autosomal recessive disorder caused by mutations in the SLC34A3 gene that encodes the renal sodium-dependent phosphate cotransporter 2c ...
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A Rare Case of Wilsons Disease with Zoophilia
... a autosomal recessive disorder, characterized by abnormal copper deposition in the liver, brain, and other tissues caused by mutation in the copper transporting gene ...movement disorder but ...
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Treatment of dyslipidemia with lovastatin and ezetimibe in an adolescent with cholesterol ester storage disease
... Cholesteryl ester storage disease (CESD; MIM 278000) is an autosomal recessive disorder caused by a deficiency of lysosomal acid lipase (LAL; acid cholesteryl hydrolase; EC 3.1.1.13).. L[r] ...
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Wolcott-Rallison syndrome: pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3
... olcott-Rallison syndrome OMIM 226980 is a rare autosomal recessive disorder characterised by permanent insulin requiring diabetes developing in the newborn period or early infancy, an ea[r] ...
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Living-Donor Liver Transplantation From a Heterozygous Parent for Infantile Refsum Disease
... rare autosomal recessive disorder of peroxisome biogenesis characterized by generalized peroxisomal metabolic dysfunction, including accumulation of very long-chain fatty acids (VLCFAs) and phytanic ...
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Metabolic disorders in kidney stone disease in children
... Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis FHHC, an autosomal- recessive disorder is characterized by renal magnesium and calcium wasting, nephrocalcinosis and ...
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<p>Anesthesia During Functional Endoscopic Sinus Surgery for Kartagener’s Syndrome: A Case Report and Literature Review</p>
... Introduction: Kartagener ’ s syndrome (KS) is a ciliopathic, autosomal recessive disorder characterized by the triad of situs inversus, chronic sinusitis, and bronchiectasis. The abnormal ciliary ...
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Papillon–Lefèvre syndrome: clinical presentation and management options
... rare autosomal recessive disorder, characterized by diffuse palmoplantar keratoderma and precocious aggressive periodontitis, leading to premature loss of deciduous and permanent dentition at a very ...
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Novel in frame deletion in MFSD8 gene revealed by trio whole exome sequencing in an Iranian affected with neuronal ceroid lipofuscinosis type 7: a case report
... an autosomal recessive pattern with the exception of adult neuronal ceroid lipofuscinosis, which can be inherited in either an autosomal recessive or an autosomal dominant ...
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Case Report Primary hyperoxaluria type 1: a case report in a 7-month-old Chinese infant under biopsy and light microscope diagnosis
... this disorder has been reported [3], including stud- ies of PH1-specific mutations (G41R, F152I, G170R, and I244T) in European and North American patients [4], as well as a PH1-speci- fic mutation (S205P) in ...
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